Pachydermoperiostosis

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, <i>cutis verticis gyrata</i>, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a <i>forme frusta</i> with prominent pachydermia and minimal-to-absent skeletal changes.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 126 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
1
(52.1%)
3966121
Acro-osteolysis associated with hypertrophic pulmonary osteoarthropathy and pachydermoperiostosis.
Joseph B, Chacko V.
Radiology. 1985;154(2):343-4.
眼瞼炎 ばち状化
つま先 ヒト 中年 原発性肥大性骨関節症 手指 続発性肥大性骨関節症 骨吸収 骨溶解症
2
(51.2%)
16738844
Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia.
Okten A, Mungan I, Kalyoncu M, Orbak Z.
Clin Rheumatol. 2007;26(1):8-11.
粗な顔貌 掌蹠多汗症
エストロゲン拮抗薬 ヒト 原発性肥大性骨関節症 同胞 成人 関節痛
3
(50.6%)
28112140
(5322714)
A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids.
Mukherjee B, Alam MS.
Indian J Ophthalmol. 2016;64(12):938-940.
ばち状化 Floppy eyelid
ヒト 原発性肥大性骨関節症 希少疾患 成人 眼瞼下垂 組織診
3
(50.6%)
23662673
Pachydermoperiostosis: a rare cause of marked blepharoptosis and floppy eyelid syndrome.
Berdia J, Tsai FF, Liang J, Shinder R.
Orbit. 2013;32(4):266-9.
粗な顔貌 ばち状化 Floppy eyelid
ヒト 原発性肥大性骨関節症 成人 眼瞼下垂 眼瞼疾患 磁気共鳴画像法 鑑別診断
5
(47.6%)
15168249
Pachydermoperiostosis associated with juvenile polyps of the stomach and gastric adenocarcinoma.
Ikeda F, Okada H, Mizuno M, Kawamoto H, Okano N, Okazaki H, Hamazaki S, Shiratori Y.
J Gastroenterol. 2004;39(4):370-4.
粗な顔貌 ばち状化
ヒト 原発性肥大性骨関節症 成人 胃癌 腺癌 腺腫性ポリープ
5
(47.6%)
10721658
Primary pachydermoperiostosis: a case report.
Thappa DM, Sethuraman G, Kumar GR, Elangovan S.
J Dermatol. 2000;27(2):106-9.
粗な顔貌 ばち状化
つま先 ヒト 原発性肥大性骨関節症 成人 手指 頭皮疾患 顔面皮膚疾患
5
(47.6%)
7584698
Pachydermoperiostosis in a 13 year-old boy presenting as an acromegaly-like syndrome.
Singh GR, Menon PS.
J Pediatr Endocrinol Metab. 1995;8(1):51-4.
粗な顔貌 ばち状化
ヒト 先端巨大症 原発性肥大性骨関節症 症候群 鑑別診断 関節
5
(47.6%)
6825994
Pachydermoperiostosis, hypertrophic gastropathy, and peptic ulcer.
Lam SK, Hui WK, Ho J, Wong KP, Rotter JI, Samloff IM.
Gastroenterology. 1983;84(4):834-9.
粗な顔貌 ばち状化
GAST
ガストリン ヒト ペプシノーゲン 中年 優性遺伝子 原発性肥大性骨関節症 成人 消化不良 消化性潰瘍 症候群 肥厚性胃炎 胃液酸性度測定 胃炎 表情
9
(39.0%)
9571285
Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.
Farah S, Farag T, Sabry MA, Simeonov ST, al-Khattam S, Abulhassan SJ, Quasrawi B, al-Busairi W, al-Awadi SA.
Clin Dysmorphol. 1998;7(2):131-4.
小頭
Y染色体 てんかん ヒト 小頭症 成人 症候群 知的障害 磁気共鳴画像法
10
(35.4%)
29643673
(5883430)
Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report.
Sivathapandi T, Amalachandran J, Simon S, Elangovan I.
Indian J Nucl Med. 2018;33(2):128-131.
ばち状化 ばち指
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 41

HPO ID 徴候・症状 頻度
HP:0000975 多汗 Very frequent (99-80%)
HP:0001051 脂漏性皮膚炎 Very frequent (99-80%)
HP:0001072 分厚い皮膚 Very frequent (99-80%)
HP:0002653 骨痛 Very frequent (99-80%)
HP:0002754 骨髄炎 Very frequent (99-80%)
HP:0003103 骨皮質形態異常 Very frequent (99-80%)
HP:0005930 骨端の異常 Very frequent (99-80%)
HP:0000280 粗な顔貌 Frequent (79-30%)
HP:0000508 眼瞼下垂 Frequent (79-30%)
HP:0000969 浮腫 Frequent (79-30%)
HP:0001061 痤瘡 Frequent (79-30%)
HP:0001231 指爪の異常 Frequent (79-30%)
HP:0001369 関節炎 Frequent (79-30%)
HP:0001376 関節運動制限 Frequent (79-30%)
HP:0001386 関節腫脹 Frequent (79-30%)
HP:0002797 骨融解 Frequent (79-30%)
HP:0002829 関節痛 Frequent (79-30%)
HP:0010541 脳回状頭皮 Frequent (79-30%)
HP:0011362 異常な毛髪量 Frequent (79-30%)
HP:0100760 ばち趾 Frequent (79-30%)
HP:0000771 女性型乳房 Occasional (29-5%)
HP:0000845 成長ホルモン過剰症 Occasional (29-5%)
HP:0000939 骨粗鬆症 Occasional (29-5%)
HP:0000976 湿疹性皮膚炎 Occasional (29-5%)
HP:0000982 掌蹠角皮症 Occasional (29-5%)
HP:0001744 脾腫 Occasional (29-5%)
HP:0001903 貧血 Occasional (29-5%)
HP:0002024 吸収障害 Occasional (29-5%)
HP:0002239 胃腸出血 Occasional (29-5%)
HP:0002240 肝腫大 Occasional (29-5%)
HP:0002650 側弯 Occasional (29-5%)
HP:0002970 内反膝 Occasional (29-5%)
HP:0004398 消化性潰瘍 Occasional (29-5%)
HP:0005561 骨髄細胞形態の異常 Occasional (29-5%)
HP:0008069 皮膚新生物 Occasional (29-5%)
HP:0010720 異常な毛髪パターン Occasional (29-5%)
HP:0010829 温度覚障害 Occasional (29-5%)
HP:0010885 無菌性壊死 Occasional (29-5%)
HP:0100021 脳性麻痺 Occasional (29-5%)
HP:0100526 肺新生物 Occasional (29-5%)
HP:0200055 小さい手 Occasional (29-5%)


徴候・症状リスト(症例報告から取得)

    合計: 40

HPO ID 徴候・症状 症例報告数
HP:0001217 ばち状化 35
HP:0030314 Periostosis 10
HP:0040165 Periostitis 8
HP:0000508 眼瞼下垂 7
HP:0011974 骨髄線維症 4
HP:0001369 関節炎 3
HP:0032029 Floppy eyelid 3
HP:0000280 粗な顔貌 2
HP:0001488 両側性眼瞼下垂 2
HP:0001903 貧血 2
HP:0002653 骨痛 2
HP:0002797 骨融解 2
HP:0002829 関節痛 2
HP:0025084 Folliculitis 2
HP:0000498 眼瞼炎 1
HP:0000518 白内障 1
HP:0000939 骨粗鬆症 1
HP:0000975 多汗 1
HP:0000982 掌蹠角皮症 1
HP:0000998 多毛症 1
HP:0001370 関節リウマチ 1
HP:0002097 肺気腫 1
HP:0002243 タンパク漏出性腸症 1
HP:0002588 十二指腸潰瘍 1
HP:0002758 骨関節炎 1
HP:0003764 母斑 1
HP:0004398 消化性潰瘍 1
HP:0005186 滑膜肥大 1
HP:0005207 胃肥大 1
HP:0012115 肝炎 1
HP:0020110 Bone fracture 1
HP:0025131 Finger swelling 1
HP:0030430 Neuroma 1
HP:0030731 Carcinoma 1
HP:0031283 Tufted hairs 1
HP:0100759 ばち指 1
HP:0100769 滑膜炎 1
HP:0100774 骨化過剰 1
HP:0200123 慢性肝炎 1
HP:0410281 Dyspepsia 1


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 2

Gene Symbol 遺伝子名 Entrez Gene ID
SLCO2A1 solute carrier organic anion transporter family member 2A1 6578
HPGD 15-hydroxyprostaglandin dehydrogenase 3248